The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria

Phenylketonuria (PKU) is a rare, treatable inborn error of metabolism with frequent neurological and neuropsychiatric complications, especially in undiagnosed or insufficiently treated individuals. Given the wide range of clinical presentations and the importance of treatment implications, we here delineate the neurological and neuropsychiatric spectrum of a large cohort of previously unreported adults with late-treated PKU.

Source: Parkinsonism and Related Disorders - June 22, 2021 Category: Neurology Authors: Tina Mainka, Jan-Frederik Fischer, Julius Huebl, Alexandra Jung, Dinah Lier, Matej Skorvanek, Tom J. de Koning, Andrea A. K ühn, Peter Freisinger, Athanasia Ziagaki, Christos Ganos Source Type: research